Evaluating Genetic Modifiers of Cutaneous Neurofibromas in Adults With Neurofibromatosis Type 1

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04941027

Enrollment

1046

Registered

2021-06-28

Start date

2021-05-07

Completion date

2025-11-24

Last updated

2025-12-02

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Neurofibromatosis 1

Brief summary

The main goal of this protocol is to develop a well-phenotyped genetic biobank to identify genetic variants associated with the heterogeneous clinical presentations of Neurofibromatosis Type 1 (NF1). This will allow for improve understanding of NF1 pathogenesis and more personalized disease management. The investigators will conduct a GWAS analysis to identify common genetic risk variants associated with the development of cutaneous neurofibromas.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

40 Years to No maximum

Healthy volunteers

Inclusion criteria

* Age 40 or older. * NF type 1 diagnosed using clinical criteria. * At least one neurofibroma present at time of enrollment. * Patient able to read and understand consent form (or equivalent translation) and able to give consent. * Patient able and willing to complete all study procedures.

Design outcomes

Primary

Measure	Time frame	Description
Determination of genetic variants associated with clinical presentations of NF1.	Day 1	GWAS analysis will identify common genetic risk variants associated with the development of cutaneous neurofibromas in patients with NF1.

Countries

United States

Outcome results